Canonical Allele Identifier: CA487324459

Gene: POMT2

Linked Data

• gnomAD v4: 14-77286774-C-T
• MyVariant Identifiers: chr14:g.77753117C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286774C>T , CM000676.2:g.77286774C>T	GRCh38
NC_000014.8:g.77753117C>T , CM000676.1:g.77753117C>T	GRCh37
NC_000014.7:g.76822870C>T	NCBI36
NG_008897.1:g.39109G>A , LRG_844:g.39109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.843G>A	ENSP00000451967.2:p.Arg281=
ENST00000682247.1:c.1302G>A	ENSP00000507213.1:p.Arg434=
ENST00000682382.1:c.874G>A
ENST00000682395.1:n.1480G>A
ENST00000682459.1:n.1005G>A
ENST00000682467.1:c.1302G>A	ENSP00000508062.1:p.Arg434=
ENST00000682706.1:n.79G>A
ENST00000682795.1:c.1302G>A	ENSP00000507574.1:p.Arg434=
ENST00000682895.1:n.1018G>A
ENST00000682955.1:n.590G>A
ENST00000683188.1:c.1277G>A
ENST00000683328.1:c.295G>A	ENSP00000508096.1:n.295G>A
ENST00000683380.1:n.966G>A
ENST00000683828.1:c.1011G>A
ENST00000684259.1:n.1153G>A
ENST00000684444.1:c.49G>A
ENST00000684549.1:n.853G>A
ENST00000261534.9:c.1302G>A MANE Select	ENSP00000261534.4:p.Arg434=
ENST00000261534.8:c.1302G>A	ENSP00000261534.4:p.Arg434=
ENST00000452340.7:n.1325G>A
ENST00000553880.5:n.173G>A
ENST00000554767.5:n.2088G>A
ENST00000554884.5:n.294G>A
ENST00000556404.1:n.436G>A
ENST00000556851.1:n.338G>A
ENST00000557675.5:n.392G>A
NM_013382.5:c.1302G>A , LRG_844t1:c.1302G>A	NP_037514.2:p.Arg434=
XM_011536675.1:c.1302G>A	XP_011534977.1:p.Arg434=
XM_011536676.1:c.969G>A	XP_011534978.1:p.Arg323=
XM_011536677.1:c.843G>A	XP_011534979.1:p.Arg281=
XM_011536678.1:c.1302G>A	XP_011534980.1:p.Arg434=
XM_011536679.1:c.396G>A	XP_011534981.1:p.Arg132=
XR_943416.1:n.1505G>A
XM_011536675.2:c.1302G>A	XP_011534977.1:p.Arg434=
XM_011536676.2:c.969G>A	XP_011534978.1:p.Arg323=
XM_011536677.3:c.843G>A	XP_011534979.1:p.Arg281=
XR_001750279.1:n.1502G>A
XR_001750282.1:n.1955G>A
XR_943416.3:n.1503G>A
NM_013382.6:c.1302G>A	NP_037514.2:p.Arg434=
NM_013382.7:c.1302G>A MANE Select	NP_037514.2:p.Arg434=